Varaico: Literature-Extracted Genetic Variants

Gene:EMC2
Variant:p.K255E

EMC2

21 papers

Pfam Domains

TPR_EMC2aa 56–220UCSCEMC2 TPR-like repeat domain

Gene Aliases

HGNC Name

ER membrane protein complex subunit 2

HGNC Previous Symbols

KIAA0103; TTC35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014673.5
p.K255E
c.763A>G
Surrounding Variants
1 paper
NM_014673.5
p.D252A
c.755A>C
1 paper
NM_014673.5
p.K248E
c.742A>G
1 paper
NM_014673.5
p.E209A
c.626A>C
1 paper
NM_014673.5
p.E206A
c.617A>C
1 paper
NM_014673.5
p.A196V
c.587C>T
1 paper
NM_014673.5
p.Q194K
c.580C>A
1 paper
NM_014673.5
p.Q193E
c.577C>G
1 paper
NM_014673.5
p.A271E
c.812C>A
1 paper
NM_014673.5
p.L282P
c.845T>C
1 paper
NM_014673.5
p.E286K
c.856G>A
1 paper
NM_014673.5
p.E286A
c.857A>C
1 paper
NM_014673.5
p.E290A
c.869A>C
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